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Genetic bipolar

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https://www.readbyqxmd.com/read/29765027/polygenic-pleiotropy-and-potential-causal-relationships-between-educational-attainment-neurobiological-profile-and-positive-psychotic-symptoms
#1
Yen-Feng Lin, Chia-Yen Chen, Dost Öngür, Rebecca Betensky, Jordan W Smoller, Deborah Blacker, Mei-Hua Hall
Event-related potential (ERP) components have been used to assess cognitive functions in patients with psychotic illness. Evidence suggests that among patients with psychosis there is a distinct heritable neurophysiologic phenotypic subtype captured by impairments across a range of ERP measures. In this study, we investigated the genetic basis of this "globally impaired" ERP cluster and its relationship to psychosis and cognitive abilities. We applied K-means clustering to six ERP measures to re-derive the globally impaired (n = 60) and the non-globally impaired ERP clusters (n = 323) in a sample of cases with schizophrenia (SCZ = 136) or bipolar disorder (BPD = 121) and healthy controls (n = 126)...
May 16, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29760952/downregulation-of-the-psychiatric-susceptibility-gene-cacna1c-promotes-mitochondrial-resilience-to-oxidative-stress-in-neuronal-cells
#2
Susanne Michels, Goutham K Ganjam, Helena Martins, Gerhard M Schratt, Markus Wöhr, Rainer K W Schwarting, Carsten Culmsee
Affective disorders such as major depression and bipolar disorder are among the most prevalent forms of mental illness and their etiologies involve complex interactions between genetic and environmental risk factors. Over the past ten years, several genome wide association studies (GWAS) have identified CACNA1C as one of the strongest genetic risk factors for the development of affective disorders. However, its role in disease pathogenesis is still largely unknown. Vulnerability to affective disorders also involves diverse environmental risk factors such as perinatal insults, childhood maltreatment, and other adverse pathophysiological or psychosocial life events...
2018: Cell Death Discovery
https://www.readbyqxmd.com/read/29760528/lrrtm4-c538y-novel-gene-mutation-is-associated-with-hereditary-macular-degeneration-with-novel-dysfunction-of-on-type-bipolar-cells
#3
Yuichi Kawamura, Akiko Suga, Takuro Fujimaki, Kazutoshi Yoshitake, Kazushige Tsunoda, Akira Murakami, Takeshi Iwata
The macula is a unique structure in higher primates, where cone and rod photoreceptors show highest density in the fovea and the surrounding area, respectively. The hereditary macular dystrophies represent a heterozygous group of rare disorders characterized by central visual loss and atrophy of the macula and surrounding retina. Here we report an atypical absence of ON-type bipolar cell response in a Japanese patient with autosomal dominant macular dystrophy (adMD). To identify a causal genetic mutation for the adMD, we performed whole-exome sequencing (WES) on four affected and four-non affected members of the family for three generations, and identified a novel p...
May 14, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29758086/cholinergic-excitation-complements-glutamate-in-coding-visual-information-in-retinal-ganglion-cells
#4
Santhosh Sethuramanujam, Gautam B Awatramani, Malcolm M Slaughter
Starburst amacrine cells release GABA and acetylcholine This study explores the coordinated function of starburst mediated cholinergic excitation and GABAergic inhibition to bistratified retinal ganglion cells, predominantly direction-selective ganglion cells (DSGCs) In rat retina, under our recording conditions, starbursts were found to provide the major excitatory drive to a sub-population of ganglion cells whose dendrites co-stratify with starburst dendrites (putative DSGCs) In mouse retina, recordings from genetically identified DSGCs at physiological temperatures reveal that ACh inputs dominate the response to small spot-high contrast light stimuli, with preferential addition of bipolar cell input shifting the balance towards glutamate for larger spot stimuli In addition, starbursts also appear to gate glutamatergic excitation to DSGCs by postsynaptic and possibly presynaptic inhibitory processes ABSTRACT: Starburst amacrine cells release both GABA and acetylcholine (ACh), allowing them to simultaneously mediate inhibition and excitation...
May 14, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29748770/a-systematic-review-of-associations-between-functional-mri-activity-and-polygenic-risk-for-schizophrenia-and-bipolar-disorder
#5
REVIEW
Zalina Dezhina, Siri Ranlund, Marinos Kyriakopoulos, Steve C R Williams, Danai Dima
Genetic factors account for up to 80% of the liability for schizophrenia (SCZ) and bipolar disorder (BD). Genome-wide association studies have successfully identified several genes associated with increased risk for both disorders. This has allowed researchers to model the aggregate effect of genes associated with disease status and create a polygenic risk score (PGRS) for each individual. The interest in imaging genetics using PGRS has grown in recent years, with several studies now published. We have conducted a systematic review to examine the effects of PGRS of SCZ, BD and cross psychiatric disorders on brain function and connectivity using fMRI data...
May 10, 2018: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29740473/empirical-bayes-estimation-of-semi-parametric-hierarchical-mixture-models-for-unbiased-characterization-of-polygenic-disease-architectures
#6
Jo Nishino, Yuta Kochi, Daichi Shigemizu, Mamoru Kato, Katsunori Ikari, Hidenori Ochi, Hisashi Noma, Kota Matsui, Takashi Morizono, Keith A Boroevich, Tatsuhiko Tsunoda, Shigeyuki Matsui
Genome-wide association studies (GWAS) suggest that the genetic architecture of complex diseases consists of unexpectedly numerous variants with small effect sizes. However, the polygenic architectures of many diseases have not been well characterized due to lack of simple and fast methods for unbiased estimation of the underlying proportion of disease-associated variants and their effect-size distribution. Applying empirical Bayes estimation of semi-parametric hierarchical mixture models to GWAS summary statistics, we confirmed that schizophrenia was extremely polygenic [~40% of independent genome-wide SNPs are risk variants, most within odds ratio (OR = 1...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29739866/region-specific-regulation-of-presynaptic-dopamine-homeostasis-by-d2-autoreceptors-shapes-the-in-vivo-impact-of-the-neuropsychiatric-disease-associated-dat-variant-val559
#7
Raajaram Gowrishankar, Paul J Gresch, Gwynne L Davis, Rania M Katamish, Justin R Riele, Adele M Stewart, Roxanne A Vaughan, Maureen K Hahn, Randy D Blakely
Disruptions of dopamine (DA) signaling contribute to a broad spectrum of neuropsychiatric disorders, including attention-deficit hyperactivity disorder (ADHD), addiction, bipolar disorder and schizophrenia. Despite evidence that risk for these disorders derives from heritable variation in DA-linked genes, a better understanding is needed of the molecular and circuit context through which gene variation drives distinct disease traits. Previously, we identified the DA transporter (DAT) variant Val559 in subjects with ADHD and established that the mutation supports anomalous DAT-mediated DA efflux (ADE)...
May 8, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29739816/-cacna1c-haploinsufficiency-leads-to-pro-social-50-khz-ultrasonic-communication-deficits-in-rats
#8
Theresa M Kisko, Moria D Braun, Susanne Michels, Stephanie H Witt, Marcella Rietschel, Carsten Culmsee, Rainer K W Schwarting, Markus Wöhr
The cross-disorder risk gene CACNA1C is strongly implicated in multiple neuropsychiatric disorders, including autism spectrum disorder (ASD), bipolar disorder (BPD), and schizophrenia (SCZ), with deficits in social functioning being common for all major neuropsychiatric disorders. In the present study, we explored the role of Cacna1c in regulating disorder-relevant behavioral phenotypes, focusing on socio-affective communication after weaning during the critical developmental period of adolescence in rats. To this aim, we used a newly developed genetic Cacna1c rat model and applied a truly reciprocal approach for studying communication through ultrasonic vocalizations, including both sender and receiver...
May 8, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29737889/the-hla-g-genetic-contribution-to-bipolar-disorder-a-trans-ethnic-replication
#9
Aparna Sundaresh, Ching-Lien Wu, Raj Kumar Chinnadurai, Ravi Philip Rajkumar, Christina Mary Mariaselvam, Joël LeMaoult, Rajagopal Krishnamoorthy, Marion Leboyer, Vir Singh Negi, Ryad Tamouza
Bipolar disorder (BD) is frequently associated with immune dysfunctions. Studying the genetic diversity of the immuno-modulatory human leukocyte antigen (HLA)-G locus in a French BD cohort, we previously reported an association between a functionally relevant 14 bp Ins/Del polymorphism and BD risk. The present study investigated the genetic and expression diversities of HLA-G in a geographically distinct South Indian population-group BD patients, as well as the influence of exposure to the neurotropic Toxoplasma gondii pathogen...
May 8, 2018: Immunological Investigations
https://www.readbyqxmd.com/read/29737181/comparative-familial-aggregation-of-bipolar-disorder-in-patients-with-bipolar-i-and-bipolar-ii-disorders
#10
Gordon B Parker, Mia Romano, Rebecca K Graham, Tahlia Ricciardi
OBJECTIVE: We sought to quantify the prevalence and differential prevalence of a bipolar disorder among family members of patients with a bipolar I or II disorder. METHODS: The sample comprised 1165 bipolar and 1041 unipolar patients, with the former then sub-typed as having either a bipolar I or II condition. Family history data was obtained via an online self-report tool. RESULTS: Prevalence of a family member having a bipolar disorder (of either sub-type) was distinctive (36...
May 1, 2018: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
https://www.readbyqxmd.com/read/29732528/medical-comorbidities-in-bipolar-disorder
#11
REVIEW
Aktriti Sinha, Anam Shariq, Khaled Said, Abhinav Sharma, D Jeffrey Newport, Ihsan M Salloum
PURPOSE OF REVIEW: Bipolar disorder (BD) medical comorbidity presents significant clinical and public health concerns with serious impact on health. The aim of this article is to present an updated narrative review of original research articles (case control, longitudinal cohort, and cross-sectional studies) and meta-analyses published in English language journals from January 2013 to May 2017 focusing on general medical comorbidity in BD, including the added risks of iatrogenic factors relevant to the treatment of BD...
May 7, 2018: Current Psychiatry Reports
https://www.readbyqxmd.com/read/29730177/ankyrins-roles-in-synaptic-biology-and-pathology
#12
REVIEW
Katharine R Smith, Peter Penzes
Ankyrins are broadly expressed adaptors that organize diverse membrane proteins into specialized domains and link them to the sub-membranous cytoskeleton. In neurons, ankyrins are known to have essential roles in organizing the axon initial segment and nodes of Ranvier. However, recent studies have revealed novel functions for ankyrins at synapses, where they organize and stabilize neurotransmitter receptors, modulate dendritic spine morphology and control adhesion to the presynaptic site. Ankyrin genes have also been highly associated with a range of neurodevelopmental and psychiatric diseases, including bipolar disorder, schizophrenia and autism, which all demonstrate overlap in their genetics, mechanisms and phenotypes...
May 3, 2018: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29725679/kinome-chemoproteomics-characterization-of-pyrrolo-3-4-c-pyrazoles-as-potent-and-selective-inhibitors-of-glycogen-synthase-kinase-3
#13
Martin Golkowski, Gayani K Perera, Venkata Narayana Vidadala, Kayode K Ojo, Wesley C Van Voorhis, Dustin J Maly, Shao-En Ong
Glycogen synthase kinase 3 has evolutionarily conserved roles in cell signaling and metabolism and is a recognized drug target in neurological pathologies, most prominently bipolar disorder. More recently it has been suggested that GSK3 may be a target for the treatment of trypanosomatid parasite infections, e.g. with T. brucei, due to the lethal phenotype observed in parasite GSK3 short RNAi knockdown experiments. Here we investigated the kinome selectivity of a library of pyrrolo[3,4-c]pyrazol inhibitors that were developed against T...
February 12, 2018: Molecular omics
https://www.readbyqxmd.com/read/29721929/mini-review-cell-type-specific-optogenetic-vision-restoration-approaches
#14
Antoine Chaffiol, Jens Duebel
The expression of light-sensitive microbial opsins is a promising mutation-independent approach to restore vision in retinal degenerative diseases. Using viral vectors, optogenetic tools can be genetically expressed in various subpopulations of retinal neurons. The choice of cell type depends on the availability of surviving retinal cells. If cones are still alive but they lack outer segments, they can be targeted with optogenetic inhibitors, such as halorhodopsin. Alternatively, it is possible to bypass the photoreceptors and to target bipolar cells...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29710012/-viral-and-electrophysiological-approaches-for-elucidating-the-structure-and-function-of-retinal-circuits
#15
Masanari Onda, Kouki Sansawa, Fumitaka Osakada
 The mammalian retina consists of five classes of neurons: photoreceptor, horizontal, bipolar, amacrine, and ganglion cells. Based on cell morphology, electrophysiological properties, connectivity, and gene expression patterns, each class of retinal neurons is further subdivided into many distinct cell types. Each type of photoreceptor, bipolar, and ganglion cell tiles the retina, collectively providing a complete representation across the visual scene. Visual signals are processed by at least 80 distinct cell types and at least 20 separate circuits in the retina...
2018: Yakugaku Zasshi: Journal of the Pharmaceutical Society of Japan
https://www.readbyqxmd.com/read/29707086/epigenetics-of-metabolic-syndrome-as-a-mood-disorder
#16
REVIEW
Sermin Kesebir
Mood disorders comprise major depressive disorder (MDD), bipolar disorder (BD) and the milder forms of these two disorders. Reccurring MDD is also known as unipolar disorder. The distinction between unipolar and bipolar disorders was first suggested in 1957 by Leonard and was made official after support by several studies in 1980. Indeed, in 150 AD, Aretaeus of Cappadocia wrote "It seems to me that melancholia is the beginning and a part of mania". Additionally, Kraepelin, who proposed the first medical disease model in psychiatry a century ago, considered recurrent unipolar depression cases under the category of bipolar disorder and conceptualized spectrum disorders...
June 2018: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29706865/mental-illnesses-associated-fxr1-and-its-negative-regulator-gsk3%C3%AE-are-modulators-of-anxiety-and-glutamatergic-neurotransmission
#17
Jivan Khlghatyan, Alesya Evstratova, Simon Chamberland, Aleksandra Marakhovskaia, Arash Bahremand, Katalin Toth, Jean-Martin Beaulieu
Genetic variants of the fragile X mental retardation syndrome-related protein 1 ( FXR1) have been associated to mood regulation, schizophrenia, and bipolar disorders. Nonetheless, genetic association does not indicate a functional link of a given gene to neuronal activity and associated behaviors. In addition, interaction between multiple genes is often needed to sculpt complex traits such as behavior. Thus, modulation of neuronal functions by a given gene product, such as Fxr1, has to be thoroughly studied in the context of its interactions with other gene products...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29688390/tripolar-chromosome-segregation-drives-the-association-between-maternal-genotype-at-variants-spanning-plk4-and-aneuploidy-in-human-preimplantation-embryos
#18
Rajiv C McCoy, Louise J Newnham, Christian S Ottolini, Eva R Hoffmann, Katerina Chatzimeletiou, Omar E Cornejo, Qiansheng Zhan, Nikica Zaninovic, Zev Rosenwaks, Dmitri A Petrov, Zachary P Demko, Styrmir Sigurjonsson, Alan H Handyside
Aneuploidy is prevalent in human embryos and is the leading cause of pregnancy loss. Many aneuploidies arise during oogenesis, increasing with maternal age. Superimposed on these meiotic aneuploidies are frequent errors occurring during early mitotic divisions, contributing to widespread chromosomal mosaicism. Here we reanalyzed a published dataset comprising preimplantation genetic testing for aneuploidy in 24,653 blastomere biopsies from day-3 cleavage-stage embryos, as well as 17,051 trophectoderm biopsies from day-5 blastocysts...
April 24, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29686068/recurrent-structural-variation-clustered-sites-of-selection-and-disease-risk-for-the-complement-factor-h-cfh-gene-family
#19
Stuart Cantsilieris, Bradley J Nelson, John Huddleston, Carl Baker, Lana Harshman, Kelsi Penewit, Katherine M Munson, Melanie Sorensen, AnneMarie E Welch, Vy Dang, Felix Grassmann, Andrea J Richardson, Robyn H Guymer, Tina A Graves-Lindsay, Richard K Wilson, Bernhard H F Weber, Paul N Baird, Rando Allikmets, Evan E Eichler
Structural variation and single-nucleotide variation of the complement factor H ( CFH ) gene family underlie several complex genetic diseases, including age-related macular degeneration (AMD) and atypical hemolytic uremic syndrome (AHUS). To understand its diversity and evolution, we performed high-quality sequencing of this ∼360-kbp locus in six primate lineages, including multiple human haplotypes. Comparative sequence analyses reveal two distinct periods of gene duplication leading to the emergence of four CFH -related ( CFHR ) gene paralogs ( CFHR2 and CFHR4 ∼25-35 Mya and CFHR1 and CFHR3 ∼7-13 Mya)...
April 23, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29673576/the-role-of-genetic-variation-of-human-metabolism-for-bmi-mental-traits-and-mental-disorders
#20
Johannes Hebebrand, Triinu Peters, Dick Schijven, Moritz Hebebrand, Corinna Grasemann, Thomas W Winkler, Iris M Heid, Jochen Antel, Manuel Föcker, Lisa Tegeler, Lena Brauner, Roger A H Adan, Jurjen J Luykx, Christoph U Correll, Inke R König, Anke Hinney, Lars Libuda
OBJECTIVE: The aim was to assess whether loci associated with metabolic traits also have a significant role in BMI and mental traits/disorders METHODS: We first assessed the number of single nucleotide polymorphisms (SNPs) with genome-wide significance for human metabolism (NHGRI-EBI Catalog). These 516 SNPs (216 independent loci) were looked-up in genome-wide association studies for association with body mass index (BMI) and the mental traits/disorders educational attainment, neuroticism, schizophrenia, well-being, anxiety, depressive symptoms, major depressive disorder, autism-spectrum disorder, attention-deficit/hyperactivity disorder, Alzheimer's disease, bipolar disorder, aggressive behavior, and internalizing problems...
April 3, 2018: Molecular Metabolism
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